Common mutation in methylenetetrahydrofolate reductase: Correlation with homocysteine metabolism and late-onset vascular disease

Circulation

Volumn 94, Issue 12, 1996, Pages 3074-3078

  Deloughery, Thomas G ^a   Evans, Adam ^a   Sadeghi, Abbas ^a   McWilliams, Jeffrey ^a   Henner, W David ^a   Taylor Jr , Lloyd M ^a   Press, Richard D ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

arteriosclerosis; diet; metabolism; risk factors

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); HOMOCYSTEINE;

ADULT; AGED; ARTICLE; DNA DETERMINATION; FEMALE; GENE FREQUENCY; GENE MUTATION; GENOTYPE; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; PREVALENCE; PRIORITY JOURNAL; VASCULAR DISEASE;

EID: 0030476385     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.CIR.94.12.3074     Document Type: Article

References (19)

1. Boushey CJ, Beresford SAA, Omenn GS, Motulsky AG. A quantitative assessment of plasma homocysteine as a risk factor for vascular disease: probable benefits of increasing folic acid intakes. JAMA. 1995;274:1049-1057.
2. Mudd SH, Levy HL, Skovby F. Disorders of transsulfuration. In: Scriver CR, Beadet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease. New York, NY: McGraw-Hill Publishing Co; 1989:693-734.
3. Kang SS, Wong PW, Susmano A. Sora J, Norusis M, Ruggie N. Thermolabile methylene-tetrahydrofolate reductase: an inherited. risk factor for coronary artery disease. Am J Hum Genet. 1991;48: 536-545.
4. Kang SS, Passen EL, Ruggie N, Wong PW, Sora H. Thermolabile defect of methylene-tetrahydrofolate reductase in coronary artery disease. Circulation. 1993;88:1463-1469.
5. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Denheijer M, Kluijtmans LAJ, Vandenheuvel LP, Rozen R. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet. 1995;10:111-113.
6. Van der Put NMJ, Steegers-Theunissen RPM, Frosst P, Trijbels FJM, Eskes TKAB, van den Heuvel LP, Mariman CM, den Heyer M, Rozen R, Blom HJ. Mutated methylene-tetrahydrofolate reductase as a risk factor for spina bifida. Lancet. 1995;346:1070-1071.
7. Kluijtmans LAJ, Vandenheuvel LPWJ, Boers GHJ, Frosst P, Stevens EMB, Denheijer M, Trijbels FJM, Rozen R, Blom HJ. Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet. 1996;58:35-41.
8. Jacques PF, Bostom AG, Williams RR, Ellison RC, Eckfeldt JH, Selhub J, Rozen R. Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation. 1996;93:7-9.
9. Grompe M, St-Louis M, Demers SI, Al-Dhalimy M, Leclerc B, Tanguay RM. A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I. N Engl J Med. 1994;331:353-357.
10. Walsh PS, Metzger DA, Higuchi R. Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material. Biotechniques. 1991;10:506-513.
11. Liu X-Y, Nelson D, Grant C, Morthland V, Goodnight SH, Press RD. Molecular detection of a common mutation in coagulation factor V causing thrombosis via hereditary resistance to activated protein C. Diagn Mol Pathol. 1995;4:191-197.
12. Jacobsen DW, Gatautis VJ, Green R, Robinson K, Savon SR, Secic M, Ji J, Otto JM, Taylor LM Jr. Rapid HPLC determination of total homocysteine and other thiols in serum and plasma: sex differences and correlation with cobalamin and folate concentrations in healthy subjects. Clin Chem. 1994;40:873-881.
13. Nygard O, Vollset SE, Refsum H, Stensvold I, Tverdal A, Nordrehaug JE, Ueland M, Kvale G. Total plasma homocysteine and cardiovascular risk profile. JAMA. 1995;274:1526-1533.
14. Selhub J, Jacques PF, Wilson PW, Rush D, Rosenberg IH. Vitamin status and intake as primary determinants of homocysteinemia in an elderly population. JAMA. 1993;270:2693-2698.
15. Whitehead AS, Gallagher P, Mills JL, Kirke PN, Burke H, Molloy AM, Shields DC, Scott JM. A genetic detect in 5,10 methylenetetrahydrofolate reductase in neural tube defects. QJM. 1995;88:763-766.
16. Hillman RS. Vitamin B12, folic acid, and the treatment of megaloblastic anemias. In: Gilman AG, Rall TW, Nies AS, Taylor P, eds. The Pharmacological Basis of Therapeutics. New York, NY: Pergamon Press: 1990:294-310.
17. Hopkins PN, Wu LL, Wu J, Hunt SC, James BC, Vincent GM, Williams RR. Higher plasma homocyst(e)ine and increased susceptibility to adverse effects of low folate in early familial coronary artery disease. Arterioscler Thromb Vasc Biol. 1995;15:1314-1320.
18. Rang SS, Wong PW, Bock HG, Horwitz A, Grix A. Intermediate hyperhomocysteinemia resulting from compound heterozygosity of methylenetetrahydrofolate reductase mutations. Am J Hum Genet. 1991;48:546-551.
19. Rang SS, Zhou J, Wong PW, Kowalisyn J, Strokosch G. Intermediate homocysteinemia: a thermolabile variant of methylenetetrahydrofolate reductase. Am J Hum Genet. 1988;43:414-421.